Variant report

Variant	rs62000008
Chromosome Location	chr15:33396219-33396220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10519789	1.00[ASN][1000 genomes]
rs10519790	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632374	1.00[ASN][1000 genomes]
rs11638642	1.00[ASN][1000 genomes]
rs12148844	1.00[ASN][1000 genomes]
rs12900344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901863	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904866	1.00[ASN][1000 genomes]
rs12910785	1.00[ASN][1000 genomes]
rs12917013	1.00[ASN][1000 genomes]
rs12917561	1.00[ASN][1000 genomes]
rs17235589	1.00[ASN][1000 genomes]
rs345778	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345796	1.00[ASN][1000 genomes]
rs345797	1.00[ASN][1000 genomes]
rs345803	1.00[ASN][1000 genomes]
rs34943452	1.00[ASN][1000 genomes]
rs67629086	1.00[ASN][1000 genomes]
rs8039567	1.00[ASN][1000 genomes]
rs9783724	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33385000-33396400	Weak transcription	Fetal Kidney	kidney
2	chr15:33391000-33396400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:33391000-33396600	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:33391200-33396400	Weak transcription	NH-A	brain
5	chr15:33392400-33397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:33392800-33396400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:33392800-33397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:33393400-33397000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:33394800-33398400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:33395000-33397800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:33395000-33398200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:33395400-33396400	Enhancers	HSMMtube	muscle
13	chr15:33395400-33396800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr15:33395400-33397600	Enhancers	Primary T cells from cord blood	blood
15	chr15:33395400-33398200	Enhancers	NHLF	lung
16	chr15:33395400-33398400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:33395600-33396800	Enhancers	Osteobl	bone
18	chr15:33395600-33397600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr15:33395600-33397600	Enhancers	Hela-S3	cervix
20	chr15:33395600-33397800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:33395600-33397800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:33395600-33397800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr15:33395600-33397800	Enhancers	HSMM	muscle
24	chr15:33395600-33398200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr15:33395600-33398200	Enhancers	Dnd41	blood
26	chr15:33395800-33397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:33395800-33397000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:33395800-33397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:33395800-33397800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr15:33396000-33396400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:33396000-33396800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:33396000-33397600	Enhancers	NHEK	skin
33	chr15:33396000-33398200	Enhancers	NHDF-Ad	bronchial
34	chr15:33396000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:33396200-33396600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:33396200-33397200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:33396200-33397400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:33396200-33397400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:33396200-33397400	Enhancers	HUVEC	blood vessel

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